MCID: LNG097
MIFTS: 28

Liang Distal Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Liang Distal Myopathy

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Aliases & Descriptions for Liang Distal Myopathy:

Name: Liang Distal Myopathy 49
Laing Early-Onset Distal Myopathy 21 45 22 23 51 67
Laing Distal Myopathy 11 21 45 22 23 67
Mpd1 23 51 67
Myopathy, Distal, 1 67 24
Distal Myopathy 1 23 67
 
Myopathy Distal Early-Onset Autosomal Dominant 67
Myopathy Late Distal Hereditary 67
Welander Distal Myopathy 65
Myopathy Distal, Type 1 45
Distal Myopathy Type 1 51
Gowers Disease 51

Characteristics:

Orphanet epidemiological data:

51
laing early-onset distal myopathy:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

61
liang distal myopathy:
Onset and clinical course: childhood onset, phenotypic variability, slow progression, infantile onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 160500
Orphanet51 59135
ICD10 via Orphanet28 G71.0
MedGen34 CN074249
MeSH36 D049310
UMLS65 C0221054

Summaries for Liang Distal Myopathy

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NIH Rare Diseases:45 Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood.   early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. weakness in the feet leads to tightening of the achilles tendon, an inability to lift the big toe, and a high-stepping walk.  weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. as the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. most affected people remain mobile throughout life. life expectancy is normal. laing distal myopathy is caused by mutations in the myh7 gene and is inherited in an autosomal dominant fashion. last updated: 4/1/2011

MalaCards based summary: Liang Distal Myopathy, also known as laing early-onset distal myopathy, is related to periodontal disease and myofascial pain syndrome, and has symptoms including toe extensor amyotrophy, facial palsy and weakness of long finger extensor muscles. An important gene associated with Liang Distal Myopathy is MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta). Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot:67 Myopathy, distal, 1: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.

Genetics Home Reference:23 Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.

Description from OMIM:49 160500

GeneReviews summary for NBK1433

Related Diseases for Liang Distal Myopathy

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Diseases related to Liang Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1periodontal disease10.3
2myofascial pain syndrome10.3
3periodontitis10.3
4brain ischemia10.2
5hepatorenal syndrome10.2
6ischemia10.2
7thyroiditis10.2
8glioma10.2
9endotheliitis10.2

Graphical network of diseases related to Liang Distal Myopathy:



Diseases related to liang distal myopathy

Symptoms for Liang Distal Myopathy

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Symptoms by clinical synopsis from OMIM:

160500

Clinical features from OMIM:

160500

HPO human phenotypes related to Liang Distal Myopathy:

(show all 18)
id Description Frequency HPO Source Accession
1 toe extensor amyotrophy HP:0011916
2 facial palsy HP:0010628
3 weakness of long finger extensor muscles HP:0009077
4 amyotrophy of ankle musculature HP:0009031
5 mildly elevated creatine phosphokinase HP:0008180
6 type 1 muscle fiber predominance HP:0003803
7 proximal muscle weakness HP:0003701
8 emg HP:0003445
9 myalgia HP:0003326
10 elevated serum creatine phosphokinase HP:0003236
11 ragged-red muscle fibers HP:0003200
12 scoliosis HP:0002650
13 distal muscle weakness HP:0002460
14 pes cavus HP:0001761
15 dilated cardiomyopathy HP:0001644
16 gait disturbance HP:0001288
17 neck muscle weakness HP:0000467
18 high palate HP:0000218

Drugs & Therapeutics for Liang Distal Myopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Liang Distal Myopathy

Genetic Tests for Liang Distal Myopathy

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Genetic tests related to Liang Distal Myopathy:

id Genetic test Affiliating Genes
1 Laing Distal Myopathy22 MYH7

Anatomical Context for Liang Distal Myopathy

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MalaCards organs/tissues related to Liang Distal Myopathy:

33
Skeletal muscle

Animal Models for Liang Distal Myopathy or affiliated genes

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Publications for Liang Distal Myopathy

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Variations for Liang Distal Myopathy

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UniProtKB/Swiss-Prot genetic disease variations for Liang Distal Myopathy:

67
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1500ProVAR_022369rs121913647
2MYH7p.Ala1663ProVAR_022370
3MYH7p.Leu1706ProVAR_022371
4MYH7p.Thr441MetVAR_042785

Clinvar genetic disease variations for Liang Distal Myopathy:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000257.3(MYH7): c.4499G> C (p.Arg1500Pro)single nucleotide variantPathogenicrs121913647GRCh37Chr 14, 23886382: 23886382
2MYH7NM_000257.3(MYH7): c.1322C> T (p.Thr441Met)single nucleotide variantPathogenicrs121913653GRCh37Chr 14, 23898249: 23898249
3NM_000257.3(MYH7): c.4442T> C (p.Leu1481Pro)single nucleotide variantPathogenicrs587779414GRCh37Chr 14, 23886439: 23886439
4NM_000257.3(MYH7): c.4622A> C (p.Gln1541Pro)single nucleotide variantPathogenicrs587779389GRCh37Chr 14, 23886099: 23886099
5NM_000257.3(MYH7): c.4795A> C (p.Thr1599Pro)single nucleotide variantPathogenicrs587779390GRCh37Chr 14, 23885371: 23885371
6NM_000257.3(MYH7): c.4823G> C (p.Arg1608Pro)single nucleotide variantPathogenicrs587779391GRCh37Chr 14, 23885343: 23885343
7NM_000257.3(MYH7): c.4835T> C (p.Leu1612Pro)single nucleotide variantPathogenicrs587779392GRCh37Chr 14, 23885331: 23885331
8NM_000257.3(MYH7): c.4937T> C (p.Leu1646Pro)single nucleotide variantPathogenicrs587779393GRCh37Chr 14, 23885229: 23885229
9NM_000257.3(MYH7): c.4985G> C (p.Arg1662Pro)single nucleotide variantPathogenicrs370328209GRCh37Chr 14, 23885010: 23885010
10NM_000257.3(MYH7): c.5005_5007delGAG (p.Glu1669del)deletionPathogenicrs587779394GRCh37Chr 14, 23884988: 23884990
11NM_000257.3(MYH7): c.5186_5188dupAGA (p.Lys1729_Met1730insLys)duplicationPathogenicrs587779395GRCh37Chr 14, 23884685: 23884687
12MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicrs587779396GRCh37Chr 14, 23884383: 23884385
13NM_000257.3(MYH7): c.4906G> C (p.Ala1636Pro)single nucleotide variantPathogenicrs587779415GRCh37Chr 14, 23885260: 23885260
14NM_000257.3(MYH7): c.4850_4852delAGA (p.Lys1617del)deletionPathogenicrs121913648GRCh37Chr 14, 23885314: 23885316
15MYH7NM_000257.3(MYH7): c.5566G> A (p.Glu1856Lys)single nucleotide variantPathogenicrs797044598GRCh37Chr 14, 23883305: 23883305
16NM_000257.3(MYH7): c.4315G> C (p.Ala1439Pro)single nucleotide variantPathogenicrs797044599GRCh37Chr 14, 23886750: 23886750
17NM_000257.3(MYH7): c.4763G> C (p.Arg1588Pro)single nucleotide variantPathogenicrs797044600GRCh38Chr 14, 23416194: 23416194
18NM_000257.3(MYH7): c.4772T> C (p.Leu1591Pro)single nucleotide variantPathogenicrs730880808GRCh38Chr 14, 23416185: 23416185
19NM_000257.3(MYH7): c.4807G> C (p.Ala1603Pro)single nucleotide variantPathogenicrs730880809GRCh37Chr 14, 23885359: 23885359
20NM_000257.3(MYH7): c.4987G> C (p.Ala1663Pro)single nucleotide variantPathogenicrs797044601GRCh38Chr 14, 23415799: 23415799
21NM_000257.3(MYH7): c.5117T> C (p.Leu1706Pro)single nucleotide variantPathogenicrs797044602GRCh37Chr 14, 23884878: 23884878
22MYH7NM_000257.3(MYH7): c.1544T> C (p.Met515Thr)single nucleotide variantLikely pathogenicrs863224900GRCh37Chr 14, 23897743: 23897743
23NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)deletionPathogenicrs367543052GRCh37Chr 14, 23884685: 23884687
24NM_000257.3(MYH7): c.4522_4524delGAG (p.Glu1508del)deletionPathogenicrs397516220GRCh37Chr 14, 23886197: 23886199
25MYH7NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516248GRCh37Chr 14, 23884362: 23884362
26MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantPathogenicrs397516254GRCh37Chr 14, 23883018: 23883018

Expression for genes affiliated with Liang Distal Myopathy

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Search GEO for disease gene expression data for Liang Distal Myopathy.

Pathways for genes affiliated with Liang Distal Myopathy

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GO Terms for genes affiliated with Liang Distal Myopathy

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Sources for Liang Distal Myopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet